1. Bal VH, Farmer C, Thurm A. {{Describing Function in ASD: Using the DSM-5 and Other Methods to Improve Precision}}. {J Autism Dev Disord};2017 (Jul 06)
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2. Ballouz S, Gillis J. {{Strength of functional signature correlates with effect size in autism}}. {Genome Med};2017 (Jul 07);9(1):64.
BACKGROUND: Disagreements over genetic signatures associated with disease have been particularly prominent in the field of psychiatric genetics, creating a sharp divide between disease burdens attributed to common and rare variation, with study designs independently targeting each. Meta-analysis within each of these study designs is routine, whether using raw data or summary statistics, but combining results across study designs is atypical. However, tests of functional convergence are used across all study designs, where candidate gene sets are assessed for overlaps with previously known properties. This suggests one possible avenue for combining not study data, but the functional conclusions that they reach. METHOD: In this work, we test for functional convergence in autism spectrum disorder (ASD) across different study types, and specifically whether the degree to which a gene is implicated in autism is correlated with the degree to which it drives functional convergence. Because different study designs are distinguishable by their differences in effect size, this also provides a unified means of incorporating the impact of study design into the analysis of convergence. RESULTS: We detected remarkably significant positive trends in aggregate (p < 2.2e-16) with 14 individually significant properties (false discovery rate <0.01), many in areas researchers have targeted based on different reasoning, such as the fragile X mental retardation protein (FMRP) interactor enrichment (false discovery rate 0.003). We are also able to detect novel technical effects and we see that network enrichment from protein-protein interaction data is heavily confounded with study design, arising readily in control data. CONCLUSIONS: We see a convergent functional signal for a subset of known and novel functions in ASD from all sources of genetic variation. Meta-analytic approaches explicitly accounting for different study designs can be adapted to other diseases to discover novel functional associations and increase statistical power. Lien vers le texte intégral (Open Access ou abonnement)
3. Campbell SB, Mahoney AS, Northrup J, Moore EL, Leezenbaum NB, Brownell CA. {{Developmental Changes in Pretend Play from 22- to 34-Months in Younger Siblings of Children with Autism Spectrum Disorder}}. {J Abnorm Child Psychol};2017 (Jul 07)
Developmental trajectories of children’s pretend play and social engagement, as well as parent sensitivity and stimulation, were examined in toddlers with an older sibling with autism spectrum disorder (ASD, high risk; HR) and toddlers with typically-developing older siblings (low risk; LR). Children (N = 168, 97 boys, 71 girls) were observed at 22, 28, and 34 months during free play with a parent and elicited pretend play with an examiner. At 28 and 34 months, children were asked to imagine the consequences of actions pantomimed by the examiner on a pretend transformation task. At 36 months children were assessed for ASD, yielding 3 groups for comparison: HR children with ASD, HR children without ASD (HR-noASD), and LR children. Children in all 3 groups showed developmental changes, engaging in more bouts of pretend play and obtaining higher scores on the elicited pretend and transformation tasks with age, but children with ASD lagged behind the other 2 groups on most measures. Children with ASD were also less engaged with their parents or the examiner during play interactions than either LR or HR-noASD children, with minimal developmental change evident. Parents, regardless of group, were highly engaged with their children, but parents of HR-noASD children received somewhat higher ratings on stimulation than parents of LR children. Most group differences were not accounted for by cognitive functioning. Instead, lower social engagement appears to be an important correlate of less advanced pretend skills, with implications for understanding the early development of children with ASD and for early intervention.
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4. Codina-Sola M, Perez-Jurado LA, Cusco I, Serra-Juhe C. {{Provision of Genetic Services for Autism and its Impact on Spanish Families}}. {J Autism Dev Disord};2017 (Jul 05)
Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.
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5. Edwards LA, Wagner JB, Tager-Flusberg H, Nelson CA. {{Differences in Neural Correlates of Speech Perception in 3 Month Olds at High and Low Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 07)
In this study, we investigated neural precursors of language acquisition as potential endophenotypes of autism spectrum disorder (ASD) in 3-month-old infants at high and low familial ASD risk. Infants were imaged using functional near-infrared spectroscopy while they listened to auditory stimuli containing syllable repetitions; their neural responses were analyzed over left and right temporal regions. While female low risk infants showed initial neural activation that decreased over exposure to repetition-based stimuli, potentially indicating a habituation response to repetition in speech, female high risk infants showed no changes in neural activity over exposure. This finding may indicate a potential neural endophenotype of language development or ASD specific to females at risk for the disorder.
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6. Garrido D, Petrova D, Watson LR, Garcia-Retamero R, Carballo G. {{Language and motor skills in siblings of children with autism spectrum disorder: A meta-analytic review}}. {Autism Res};2017 (Jul 07)
Children with autism spectrum disorder (ASD) show significant linguistic and motor impairments compared to children with typical development (TD). Findings from studies of siblings of children with ASD show similarities to conclusions from studies of children with ASD. The current meta-analysis reviewed studies reporting linguistic and/or motor skills in siblings of children with ASD compared to siblings of children with TD. Thirty-four studies published between 1994 and 2016 met all inclusion criteria. We compared three different age groups (12 months or younger, 13 to 24 months, and 25 to 36 months). At 12 months, compared to siblings of children with TD, siblings of children with ASD had worse receptive language (d = -.43, 95% CI [-.53, -.33]) and expressive language skills (d = -.40, 95% CI [-.57, -.23]), and these effects were sustained at 24 and 36 months. Similar, albeit smaller differences in fine motor skills were detected at 12 months (d = -.22, 95% CI [-.39, -.04]), and these differences were larger at 36 months (d = -.36, 95% CI [-.54, -.17]). There were differences in gross motor skills at 12 months (d = -.22, 95% CI [-.40, -.04]), but only a few studies were available at later ages. Compared to siblings of children with TD, infants who have siblings with ASD have worse linguistic and motor skills. These differences are detectable as early as when infants are 12 months old and seem to be sustained until they are 3 years old. Differences in language skills are larger than those in motor skills, especially during the first year. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Hillman JL, Wentzel MC, Anderson CM. {{Grandparents’ Experience of Autism Spectrum Disorder: Identifying Primary Themes and Needs}}. {J Autism Dev Disord};2017 (Jul 07)
Limited information is available regarding the first person perspective of grandparents of children with Autism Spectrum Disorders (ASD). In the present study, 1870 grandparents of a child with ASD participated in a nationwide, online, anonymous, 30-minute survey and responded to open-ended questions including their « greatest challenges and greatest joys » as the grandparent of a child on the autism spectrum. A grounded theory approach to qualitative analysis revealed four overarching categories: a Desire for Connection, Barriers to Care, Celebration of Progress, and Personal Reactions. Despite the presence of significant challenges grandparents often experienced positivity in their role, and engaged in radical acceptance of their grandchild as well as transformative insight and advocacy. Specific recommendations are offered to help address grandparents’ needs and capitalize upon their resilience.
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8. Kovshoff H, Cebula K, Tsai HJ, Hastings RP. {{Siblings of Children with Autism: the Siblings Embedded Systems Framework}}. {Curr Dev Disord Rep};2017;4(2):37-45.
PURPOSE OF REVIEW: A range of interacting factors/mechanisms at the individual, family, and wider systems levels influences siblings living in families where one sibling has autism. We introduce the Sibling Embedded Systems Framework which aims to contextualise siblings’ experience and characterise the multiple and interacting factors influencing family and, in particular, sibling outcomes. RECENT FINDINGS: Findings from studies that have reported outcomes for siblings of children with autism are equivocal, ranging from negative impact, no difference, to positive experience. This is likely due to the complex nature of understanding the sibling experience. We focus on particular elements of the framework and review recent novel literature to help guide future directions for research and practice including the influence of culture, methodological considerations, and wider participatory methods. SUMMARY: The Siblings Embedded System Framework can be used to understand interactive factors that affect sibling adjustment and to develop clinically, educationally and empirically based work that aims to enhance and support sibling adjustment, relationships, and well-being in families of children with autism.
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9. Kuo HY, Liu FC. {{Valproic acid induces aberrant development of striatal compartments and corticostriatal pathways in a mouse model of autism spectrum disorder}}. {Faseb j};2017 (Jul 07)
The striatum comprises two neurochemical compartments: striosomes and the matrix. Striosomal and matrix compartments receive inputs from limbic-related and sensorimotor cortices, respectively. Here, we investigate the impact on the corticostriosomal pathway in the valproic acid (VPA)-induced autism spectrum disorder mouse model. VPA administration during the neurogenesis time windows of striosomes, but not the matrix, resulted in aberrant compartmentation [i.e., maternal VPA injections at embryonic day (E)12.75 decreased mu-opioid receptor-positive striosomes, but increased calbindin-positive matrix in the rostral striatum]. VPAE12.75 treatment also impaired the aggregation of cells pulse labeled with 5-bromo-2′-deoxyuridine at E12.75 into striosomal cell clusters, which suggests defective segregation of striosomal cells from matrix cells. This possibility was supported by our findings that VPAE12.75 treatment altered the expression of ephrinA5 and EphA4, two molecules that are related to compartmental segregation. In the VPAE12.75 neocortex, Foxp2-positive neurons were decreased in layer VI, but increased in layer V, which projects to the striosomal compartment. We also investigated VPA effects on the corticostriosomal pathway. VPAE12.75 treatment decreased the putative corticostriosomal synapses of striosomal neurons and induced an aberrant pattern of isolation stress-induced ultrasonic vocalizations. Of interest, risperidone treatments conjointly improved ultrasonic vocalizations and restored the striosomal compartment in VPAE12.75 pups. Collectively, dysfunctional corticostriatal pathways, particularly via the aberrant striosomal compartment, may be involved in autism spectrum disorder pathophysiology.-Kuo, H.-Y., Liu, F.-C. Valproic acid induces aberrant development of striatal compartments and corticostriatal pathways in a mouse model of autism spectrum disorder.
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10. Li W, Bellot-Saez A, Phillips ML, Yang T, Longo FM, Pozzo-Miller L. {{A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice}}. {Dis Model Mech};2017 (Jul 01);10(7):837-845.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein-2 (MECP2), a transcriptional regulator of many genes, including brain-derived neurotrophic factor (BDNF). BDNF levels are reduced in RTT autopsy brains and in multiple brain areas of Mecp2-deficient mice. Furthermore, experimental interventions that increase BDNF levels improve RTT-like phenotypes in Mecp2 mutant mice. Here, we characterized the actions of a small-molecule ligand of the BDNF receptor TrkB in hippocampal function in Mecp2 mutant mice. Systemic treatment of female Mecp2 heterozygous (HET) mice with LM22A-4 for 4 weeks improved hippocampal-dependent object location memory and restored hippocampal long-term potentiation (LTP). Mechanistically, LM22A-4 acts to dampen hyperactive hippocampal network activity, reduce the frequency and amplitude of miniature excitatory postsynaptic currents (mEPSCs), and reduce the frequency of spontaneous tetrodotoxin-resistant Ca2+ signals in Mecp2 mutant hippocampal neurons, making them comparable to those features observed in wild-type neurons. Together, these observations indicate that LM22A-4 is a promising therapeutic candidate for the treatment of hippocampal dysfunction in RTT.
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11. Mandic-Maravic V, Pljesa-Ercegovac M, Mitkovic-Voncina M, Savic-Radojevic A, Lecic-Tosevski D, Simic T, Pejovic-Milovancevic M. {{Impaired Redox Control in Autism Spectrum Disorders: Could It Be the X in GxE?}}. {Curr Psychiatry Rep};2017 (Aug);19(8):52.
PURPOSE OF REVIEW: This review aims to provide a brief description of the complex etiology of autism spectrum disorders (ASD), with special emphasis on the recent findings of impaired redox control in ASD, and to suggest a possible model of oxidative stress-specific gene-environment interaction in this group of disorders. RECENT FINDINGS: Recent findings point out to the significance of environmental, prenatal, and perinatal factors in ASD but, at the same time, are in favor of the potentially significant oxidative stress-specific gene-environment interaction in ASD. Available evidence suggests an association between both the identified environmental factors and genetic susceptibility related to the increased risk of ASD and the oxidative stress pathway. There might be a potentially significant specific gene-environment interaction in ASD, which is associated with oxidative stress. Revealing novel susceptibility genes (including those encoding for antioxidant enzymes), or environmental factors that might increase susceptibility to ASD in carriers of a specific genotype, might enable the stratification of individuals more prone to developing ASD and, eventually, the possibility of applying preventive therapeutic actions.
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12. May CD, St George JM, Fletcher RJ, Dempsey I, Newman LK. {{Coparenting Competence in Parents of Children with ASD: A Marker of Coparenting Quality}}. {J Autism Dev Disord};2017 (Jul 07)
The coparenting relationship has been linked to parenting stress, parenting self-efficacy and many other concerns associated with the development of children with ASD. Parents of children with ASD (N = 22) were interviewed to explore three domains of their coparenting relationship; (1) adaptation to the emergence of their child’s autism, (2) parenting their child with ASD, (3) expectations for their child’s developmental outcomes. The concept of coparenting competence, developed during analysis, describes collective perceptions of parenting efficacy. Parents linked perceptions of coparenting competence to their, ability to cope with diagnosis and parenting, motivation to do what they could for their child, and hopes for their child’s development. The concept of coparenting competence could play an important role in future research and intervention.
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13. McClellan L, Dominick KC, Pedapati EV, Wink LK, Erickson CA. {{Lurasidone for the treatment of irritability and anger in autism spectrum disorders}}. {Expert Opin Investig Drugs};2017 (Jul 07)
INTRODUCTION: Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social interaction and communication as well as restricted patterns of behaviors and interests. Irritability marked by tantrums, self-injury and aggression occurs frequently in youth with ASD, causing significant parent and caregiver distress. Atypical antipsychotics have been the most studied drug class targeting irritability in ASD. Risperidone and aripiprazole are Food and Drug Administration (FDA)-approved atypical antipsychotics for treatment of irritability in youth with ASD. However, other atypical antipsychotics, such as lurasidone, are often considered for off-label use in the treatment of irritability, whether because of tolerability issues with risperidone and aripiprazole or because of the drug-refractory nature of this symptom cluster. Areas covered: Following a comprehensive review of the literature this article summarizes information on the efficacy and tolerability of lurasidone as a potential off label treatment of irritability in children and adolescents with ASD. Available data included a 6 week randomized, blind, fixed dose, placebo-controlled study and a case study. Expert Opinion: To date the safety and tolerability of lurasidone in treating irritability in youth with ASD has yet to be established with, lurasidone being the only antipsychotic with published negative placebo-controlled results.
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14. Nithianantharajah J, Balasuriya GK, Franks AE, Hill-Yardin EL. {{Using Animal Models to Study the Role of the Gut-Brain Axis in Autism}}. {Curr Dev Disord Rep};2017;4(2):28-36.
PURPOSE OF REVIEW: Individuals with autism spectrum disorders (ASD) commonly also suffer from gastrointestinal (GI) dysfunction; however, few animal model studies have systematically examined both ASD and GI dysfunction. In this review, we highlight studies investigating GI dysfunction and alterations in gut microbiota in animal models of ASD with the aim of determining if routinely used microbiology and enteric neurophysiology assays could expand our understanding of the link between the two. RECENT FINDINGS: Gut-brain axis research is expanding, and several ASD models demonstrate GI dysfunction. The integration of well-established assays for detecting GI dysfunction into standard behavioural testing batteries is needed. SUMMARY: Advances in understanding the role of the gut-brain axis in ASD are emerging; however, we outline standard assays for investigating gut-brain axis function in rodents to strengthen future phenotyping studies. Integrating these findings to the field of animal behaviour is one of the next major challenges in autism research.
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15. Pelton MK, Cassidy SA. {{Are autistic traits associated with suicidality? A test of the interpersonal-psychological theory of suicide in a non-clinical young adult sample}}. {Autism Res};2017 (Jul 07)
Autism spectrum conditions (ASC) has recently been associated with increased risk of suicidality. However, no studies have explored how autistic traits may interact with current models of suicidal behavior in a non-clinical population. The current study therefore explored how self-reported autistic traits interact with perceived burdensomeness and thwarted belongingness in predicting suicidal behavior, in the context of the Interpersonal-Psychological Theory of Suicide (IPTS). 163 young adults (aged 18-30 years) completed an online survey including measures of thwarted belonging and perceived burdensomeness (Interpersonal Needs Questionnaire), self-reported autistic traits (Autism Spectrum Quotient), current depression (Centre for Epidemiological Studies Depression Scale), and lifetime suicidality (Suicide Behavior Questionnaire-Revised). Results showed that burdensomeness and thwarted belonging significantly mediated the relationship between autistic traits and suicidal behavior. Both depression and autistic traits significantly predicted thwarted belonging and perceived burdensomeness. Autistic traits did not significantly moderate the relationship between suicidal behavior and thwarted belonging or perceived burdensomeness. Results suggest that the IPTS provides a useful framework for understanding the influence of autistic traits on suicidal behavior. However, the psychometric properties of these measures need be explored in those with clinically confirmed diagnosis of ASC. Autism Res. 2017. (c) 2017 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc.
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16. Pennisi E. {{AI in Action: Combing the genome for the roots of autism}}. {Science};2017 (Jul 07);357(6346):25.
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17. Ring M, Bowler DM, Gaigg SB. {{An Eye-Movement Study of relational Memory in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 07)
Persons with Autism Spectrum Disorder (ASD) demonstrate good memory for single items but difficulties remembering contextual information related to these items. Recently, we found compromised explicit but intact implicit retrieval of object-location information in ASD (Ring et al. Autism Res 8(5):609-619, 2015). Eye-movement data collected from a sub-sample of the participants are the focus of the current paper. At encoding, trial-by-trial viewing durations predicted subsequent retrieval success only in typically developing (TD) participants. During retrieval, TD compared to ASD participants looked significantly longer at previously studied object-locations compared to alternative locations. These findings extend similar observations recently reported by Cooper et al. (Cognition 159:127-138, 2017a) and demonstrate that eye-movement data can shed important light on the source and nature of relational memory difficulties in ASD.
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18. Sakano H, Zorio DAR, Wang X, Ting YS, Noble WS, MacCoss MJ, Rubel EW, Wang Y. {{Proteomic analyses of nucleus laminaris identified candidate targets of the fragile X mental retardation protein}}. {J Comp Neurol};2017 (Jul 07)
The avian nucleus laminaris (NL) is a brainstem nucleus necessary for binaural processing, analogous in structure and function to the mammalian medial superior olive. In chickens (Gallus gallus), NL is a well-studied model system for activity-dependent neural plasticity. Its neurons have bipolar extension of dendrites, which receive segregated inputs from two ears and display rapid and compartment-specific reorganization in response to unilateral changes in auditory input. More recently, FMRP (fragile X mental retardation protein), an RNA-binding protein that regulates local protein translation, has been shown to be enriched in NL dendrites, suggesting its potential role in the structural dynamics of these dendrites. To explore the molecular role of FMRP in this nucleus, we performed proteomic analysis of NL, using micro laser capture and liquid chromatography tandem mass spectrometry. We identified 657 proteins, greatly represented in pathways involved in mitochondria, translation and metabolism, consistent with high levels of activity of NL neurons. Of these, 94 are potential FMRP targets, by comparative analysis with previously proposed FMRP targets in mammals. These proteins are enriched in pathways involved in cellular growth, cellular trafficking and transmembrane transport. Immunocytochemistry verified the dendritic localization of several proteins in NL. Furthermore, we confirmed the direct interaction of FMRP with one candidate, RhoC, by in vitro RNA binding assays. In summary, we provide a database of highly expressed proteins in NL and in particular a list of potential FMRP targets, with the goal of facilitating molecular characterization of FMRP signaling in future studies. This article is protected by copyright. All rights reserved.
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19. Shaaban SY, El Gendy YG, Mehanna NS, El-Senousy WM, El-Feki HSA, Saad K, El-Asheer OM. {{The role of probiotics in children with autism spectrum disorder: A prospective, open-label study}}. {Nutr Neurosci};2017 (Jul 07):1-6.
OBJECTIVE: There are limited data on the efficacy of probiotics in children with ASD, therefore, this study aims to evaluate the efficacy and tolerability of probiotics in an Egyptian cohort of children with ASD. METHODS: Gastrointestinal (GI) flora were assessed by quantitative real-time PCR of stool samples of 30 autistic children from 5 to 9 years old. GI symptoms of autistic children were assessed with a modified six-item Gastrointestinal Severity Index (6-GSI) questionnaire, and autistic symptoms were assessed with Autism Treatment Evaluation Checklist (ATEC) before and after 3 months of supplementation of probiotics nutritional supplement formula (each gram contains 100 x 106 colony forming units of three probiotic strains; Lactobacillus acidophilus, Lactobacillus rhamnosus and Bifidobacteria longum). RESULTS: After probiotic supplementation, the stool PCR of autistic children showed increases in the colony counts of Bifidobacteria and Lactobacilli levels, with a significant reduction in their body weight as well as significant improvements in the severity of autism (assessed by the ATEC), and gastrointestinal symptoms (assessed by the 6-GSI) compared to the baseline evaluated at the start of the study. CONCLUSIONS: We concluded that probiotics have beneficial effects on both behavioral and GI manifestations of ASD. Probiotics (a non-pharmacological and relatively risk-free option) could be recommended for children with ASD as an adjuvant therapy. At this stage, this study is a single center with a small number of patients and a great deal of additional wide-scale randomized controlled trials are needed to critically confirm the efficacy of probiotics in ASD. TRIAL REGISTRATION NUMBER: UMIN-CTR Study Design: Trial Number UMIN000026157.
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20. Singh BD, Moore DW, Furlonger BE, Anderson A, Busacca ML, English DL. {{Teaching Reading Comprehension Skills to a Child with Autism Using Behaviour Skills Training}}. {J Autism Dev Disord};2017 (Jul 07)
A multiple probe design across skills was used to examine the effects of behaviour skills training (BST) on teaching four reading comprehension skills (predicting, questioning, clarifying, and summarizing) to a 7th grade student with autism. Following baseline, the student received 12 sessions of BST during which each skill was taught to criterion. At each session, data was also collected on the accuracy of oral responses to 10 comprehension questions. BST was associated with clear gains in the participant’s performance on each comprehension skill, along with concomitant gains in reading comprehension both on the daily probes and a standardized measure. Skills maintained at follow-up support the conclusion that BST was effective in improving the comprehension skills of a child with autism.
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21. Smith D, Ropar D, Allen HA. {{The Integration of Occlusion and Disparity Information for Judging Depth in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 07)
In autism spectrum disorder (ASD), atypical integration of visual depth cues may be due to flattened perceptual priors or selective fusion. The current study attempts to disentangle these explanations by psychophysically assessing within-modality integration of ordinal (occlusion) and metric (disparity) depth cues while accounting for sensitivity to stereoscopic information. Participants included 22 individuals with ASD and 23 typically developing matched controls. Although adults with ASD were found to have significantly poorer stereoacuity, they were still able to automatically integrate conflicting depth cues, lending support to the idea that priors are intact in ASD. However, dissimilarities in response speed variability between the ASD and TD groups suggests that there may be differences in the perceptual decision-making aspect of the task.
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22. Surer Adanir A, Gizli Coban O, Ozatalay E. {{Increased Hyperacusis with Risperidone in an Autistic Child}}. {Noro Psikiyatr Ars};2017 (Jun);54(2):187-188.
Autistic spectrum disorder is a neurodevelopmental disorder characterized by qualitative impairment in social interactions and communication skills. In addition to these core features, sensory processing abnormalities such as auditory hypersensitivity have been frequently reported. Although the cause of auditory hypersensitivity remains unknown, it is thought to be associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons. Its relation to drugs has not been well documented to date. In the literature, there is only one case on hyperacusis that worsened with risperidone in a 5-year-old girl with autism. Here we represent the case of an 11-year-old boy with autism, in whom hyperacusis worsened with risperidone, decreased after the discontinuation of the medication, and re-occurred after the prescription of the drug again. Although auditory hypersensitivity tends to affect the child’s daily life negatively and is found to be correlated with behavioral problems in autistic patients, we still know very little about its etiology, treatment, and conditions related to it. There is a great need for conducting further studies in this regard.
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23. van Steensel FJA, Heeman EJ. {{Anxiety Levels in Children with Autism Spectrum Disorder: A Meta-Analysis}}. {J Child Fam Stud};2017;26(7):1753-1767.
The aim of the current study was to meta-analytically examine whether anxiety levels in children with autism spectrum disorders (ASD) are elevated. A total of 83 articles were selected from a systematic literature search and were included in the meta-analyses. Results demonstrated that children with ASD had higher anxiety levels compared to typically developing children, and this difference increased with IQ. Youth with ASD also tended to have higher anxiety levels compared to clinically referred children, and this difference increased with age. Children with ASD had higher anxiety levels compared to youth with externalizing or developmental problems, but not when compared to youth with internalizing problems. The study findings highlight the importance of more research in order to fully understand the nature and development of anxiety in children with ASD. More specifically, the results suggest that especially high-functioning adolescents with ASD may be at risk for developing anxiety disorders. Therefore, it seems important to carefully follow and monitor children with ASD transcending to adolescence.
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24. Varcin KJ, Alvares GA, Uljarevic M, Whitehouse AJO. {{Prenatal maternal stress events and phenotypic outcomes in Autism Spectrum Disorder}}. {Autism Res};2017 (Jul 06)
There is significant heterogeneity amongst individuals with Autism Spectrum Disorder (ASD) in symptom presentation and severity. An understanding of the factors that contribute to and modulate symptom severity are critical to informing prognosis, stratification, and treatment decisions. Maternal prenatal stress exposure is a nonspecific risk factor for a wide array of neurodevelopmental outcomes in subsequent offspring. Emerging evidence suggests that prenatal maternal stress may increase ASD risk and contribute to variability in autism-like traits in the general population. In the current study, we aimed to determine whether prenatal maternal exposure to stressful life events is associated with symptom severity amongst individuals with ASD. We performed multiple regression analyses to examine associations between retrospectively recalled maternal prenatal stressful life events and the severity of ASD-associated symptoms in 174 children with ASD (Mage = 9.09 years; SD = 3.81). ASD-related symptom severity was measured using the Social Responsiveness Scale and communication abilities were measured using the Children’s Communication Checklist. Exposure to prenatal stressful life events was a significant predictor of ASD-related symptom severity (t = 2.014; P = .048) and communication abilities (t = -2.925; P = .004) amongst children with ASD, even after controlling for a range of sociodemographic and obstetric variables. Follow-up analyses demonstrated significant increases in symptom severity only in the context of multiple (two or more) prenatal stressful life events. Together, these findings indicate that ASD, in the context of prenatal maternal stress exposure, may be associated with a more severe phenotype, particularly when there are multiple prenatal exposures. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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25. Yingjun X, Haiming Y, Mingbang W, Liangying Z, Jiaxiu Z, Bing S, Qibin Y, Xiaofang S. {{Copy number variations independently induce autism spectrum disorder}}. {Biosci Rep};2017 (Aug 31);37(4)
The examination of copy number variation (CNV) is critical to understand the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER) database with these overlapping genes. Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification. By using the Ploysearch2 software, we identified the interaction relationship between significant genes and known ASD genes. A total of 29 CNVs, overlapping with 520 genes, including 315 OMIM genes, were identified. Additionally, myocyte enhancer factor 2 family (MEF2C) with two cases of CNV overlapping were also identified. Enrichment analysis showed that the 520 genes are most likely to be related to membrane components with protein-binding functions involved in metabolic processes. In the interaction network of those genes, the known ASD genes are mostly at the core position and the significant genes found in our samples are closely related to the known ASD genes. CNVs should be an independent factor to induce autism. With the strategy of our study, we could find the ASDs candidate genes by CNV data and review certain pathogenesis of this disorder. Those CNVs were associated with ASD and they may contribute to ASD by affecting the ASD-related genes.
